Product Details

SNP ID

rs112376082

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:149130147 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGCGGCAAGCATAGGTATGAGCTT[G/T]CTTCTGTCGGGGCGGAGACGCTGAC

Phenotype

MIM: 606118

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

HPS3 PubMed Links

Gene Details

Gene

HPS3

Gene Name

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308258.1		Intron			NP_001295187.1
NM_032383.4		Intron			NP_115759.2
XM_005247834.3		Intron			XP_005247891.1
XM_017007323.1		Intron			XP_016862812.1

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